Fabry Disease

Top 5 Most-Read Fabry Disease Articles of 2021

December 27th 2021, 1:00pm

Article

This year’s most-read articles on Fabry disease touched on advancements in therapy, health risks of the disease, and keys to improved diagnosis.

Dr Robert Hopkin on Future Considerations for Management of Fabry Disease

December 17th 2021, 8:30pm

Video

Robert J. Hopkin, MD, clinical geneticist, Cincinnati Children's Hospital Medical Center, provides an overview of the evolving treatment landscape in Fabry disease.

Review Provides Overview of Clinical Picture, Diagnostic Confirmation of Fabry Disease

December 12th 2021, 2:00pm

Article

Investigators discuss the humoral response to enzyme-replacement therapy in their review of the clinical picture and diagnostic confirmation of Fabry disease.

Dr Robert Hopkin Discusses Misconceptions in the Management of Fabry Disease

December 9th 2021, 10:05pm

Video

Robert J. Hopkin, MD, clinical geneticist, Cincinnati Children's Hospital Medical Center, speaks on misconceptions regarding Fabry disease and opportunities for improvement in care.

Case of 59-Year-Old Highlights Variability in Fabry Disease Presentation

December 5th 2021, 3:30pm

Article

A new case report highlights a patient who presented with seizure-like symptoms but was later diagnosed with the rare lysosomal storage disorder.

Dr Robert Hopkin on Unmet Needs in Fabry Disease

December 2nd 2021, 8:30pm

Video

Robert J. Hopkin, MD, clinical geneticist, Cincinnati Children's Hospital Medical Center, addresses major unmet needs in Fabry disease, ranging from uncontrolled pain to irreversible damage prior to treatment initiation.

Cerebral Small Vessel Disease and Stroke Risk in Fabry Patients

November 29th 2021, 3:20pm

Article

A small study found a correlation between age and small vessel disease risk that suggest the importance of regular brain MRI monitoring in patients with Fabry.

CRISPR-Created Model of Fabry Disease Sparks New Insights

November 27th 2021, 9:00pm

Article

Kidney organoids designed with the same mutation as that present in Fabry disease can help investigators better understand how the disease functions, authors suggested.

Dr Robert Hopkin Addresses HRQOL Factors in Fabry Disease

November 26th 2021, 2:00pm

Video

Robert J. Hopkin, MD, clinical geneticist, Cincinnati Children's Hospital Medical Center, details various known and understudied health-related quality-of-life factors in patients with Fabry disease.

Dr Robert Hopkin on Emerging Therapeutic, Technological Advancements in Fabry Disease

November 19th 2021, 3:03pm

Video

Robert J. Hopkin, MD, clinical geneticist, Cincinnati Children's Hospital Medical Center, discusses current and emerging therapeutic and technological advancements in the management of Fabry disease.